Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance

Child Neurology Open
Muneera A Alabdulqader, Sumayah Al Hajjaj

Abstract

Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Case report. An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia. The patient was treated with biotin and thiamine, and the family was instructed to continue these medications for life. When she was 7 years old, her supplements were stopped for 2 weeks for social reasons. Afterward, the patient began to have tremor in both hands and an unsteady gait. The family then resumed the medications at the usual dosages. However, the patient remained symptomatic. The patient was admitted with acute BTBGD because of discontinuation of medications. The patient's condition was then managed with high doses of intravenous thiamine and oral biotin. She showed gradual improvement after 48 hours. She was then discharged home 1 week later with residual mild upper and lower limb tremor,...Continue Reading

References

Jul 29, 1998·Brain : a Journal of Neurology·P T OzandO Dabbagh
Jun 23, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Brahim TabarkiAmel AlHashem
Sep 26, 2017·Child Neurology Open·Majid Alfadhel, Amal Al-Bluwi

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